MRI endophenotypes of heritability and cognitive dysfunction in juvenile myoclonic epilepsy
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Genetic generalized epilepsies, or idiopathic generalized epilepsies, are a group of syndromes with a known or presumed genetic origin, with juvenile myoclonic epilepsy (JME) being the most frequent subtype. Despite several pieces of evidence of its genetic etiology, there is still a lack of clinical measures that could be used as endophenotypes in JME and other genetic generalized epilepsies. Endophenotypes are subclinical quantitative biological traits that reliably reflect the function of a discrete biological system, which are likely heritable, and as such are more likely related to the cause of the disease than the overt clinical phenotype.1 MRI measures have been used extensively as potential endophenotypes in autism and several psychiatric disorders,1,2 but only more recent studies have evaluated the use of quantitative MRI for defining endophenotypes in epilepsies.3
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